PMID: 15528481

Kyriakou T, Hodgkinson C, Pontefract DE, Iyengar S, Howell WM, Wong YK, Eriksson P, Ye S
Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis.
Arterioscler Thromb Vasc Biol. 2005 Feb;25(2):418-23. Epub 2004 Nov 4., [PubMed]
Sentences
No. Mutations Sentence Comment
81 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 15528481:81:60
status: NEW
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An interaction between another ABCA1 gene polymorphism (ie, R219K) and smoking has been reported previously, although the underlying mechanisms remain unknown.16 TABLE 2. Login to comment
87 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 15528481:87:17
status: NEW
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ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 15528481:87:60
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 15528481:87:148
status: NEW
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An interaction between another ABCA1 gene polymorphism (ie, R219K) and smoking has been reported previously, although the underlying mechanisms remain unknown.16 TABLE 2. Login to comment
89 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 15528481:89:305
status: NEW
view ABCA1 p.Arg219Lys details
For example, in a study of 465 Japanese patients with myocardial infarction or angina pectoris, Takagi et al23 did not find an association between severity of atherosclerosis and the afa;565Cb0e;T polymorphism, nor did they find an association between severity of atherosclerosis and the ABCA1 gene R219K polymorphism, which has been shown to be associated with atherosclerosis severity in several other studies.15-19 Thus, it appears that the genotypic effects of ABCA1 may be influenced by other factors such as genetic backgrounds and environmental factors. Login to comment
93 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 15528481:93:17
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 15528481:93:148
status: NEW
view ABCA1 p.Val825Ile details
For example, the R219K polymorphism has been shown to be associated with risk of myocardial infarction and/or severity of atherosclerosis,15-19 the V825I, M883I, and R1587K polymorphisms with various cardiovascular traits,17,20,21 the -191GϾC, -17CϾG, and 69CϾT polymorphisms with risk of coronary events in patients with coronary atherosclerosis,22 and the 319insG polymorphism with severity of atherosclerosis.22 Taken together, these data suggest that the development and outcome of atherosclerosis might be influenced by a qualitative change of the ABCA1 protein caused by coding region variants and a quantitative change in ABCA1 expression caused by regulatory region variants. Login to comment
95 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 15528481:95:299
status: NEW
view ABCA1 p.Arg219Lys details
For example, in a study of 465 Japanese patients with myocardial infarction or angina pectoris, Takagi et al23 did not find an association between severity of atherosclerosis and the -565CϾT polymorphism, nor did they find an association between severity of atherosclerosis and the ABCA1 gene R219K polymorphism, which has been shown to be associated with atherosclerosis severity in several other studies.15-19 Thus, it appears that the genotypic effects of ABCA1 may be influenced by other factors such as genetic backgrounds and environmental factors. Login to comment